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NM_000455.5(STK11):c.941C>T (p.Pro314Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000483299.2

Allele description [Variation Report for NM_000455.5(STK11):c.941C>T (p.Pro314Leu)]

NM_000455.5(STK11):c.941C>T (p.Pro314Leu)

Gene:
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_000455.5(STK11):c.941C>T (p.Pro314Leu)
HGVS:
  • NC_000019.10:g.1223005C>T
  • NG_007460.2:g.38599C>T
  • NM_000455.5:c.941C>TMANE SELECT
  • NP_000446.1:p.Pro314Leu
  • NP_000446.1:p.Pro314Leu
  • LRG_319t1:c.941C>T
  • LRG_319:g.38599C>T
  • LRG_319p1:p.Pro314Leu
  • NC_000019.9:g.1223004C>T
  • NM_000455.4:c.941C>T
Protein change:
P314L
Links:
dbSNP: rs1064795752
NCBI 1000 Genomes Browser:
rs1064795752
Molecular consequence:
  • NM_000455.5:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000571863GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Dec 3, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000571863.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted STK11 c.941C>T at the cDNA level, p.Pro314Leu (P314L) at the protein level, and results in the change of a Proline to a Leucine (CCT>CTT). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. STK11 Pro314Leu was not observed in large population cohorts (Lek 2016). This variant is located in the c-terminal domain (Daniell 2017). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether STK11 Pro314Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024